Download Sample Case 4: Need for Clinical Cell Sorting to

Survey
yes no Was this document useful for you?
   Thank you for your participation!

* Your assessment is very important for improving the work of artificial intelligence, which forms the content of this project

Document related concepts
no text concepts found
Transcript 
Sample Case 4: Need for Clinical Cell Sorting to Confirm AML MRD by NGS
Next Generation Sequencing Results on unseparated Specimen
Specimen Type: Bone Marrow Aspirate (un-separated specimen)
Clinical History/Indications: A xy-year-old patient with a clinical history of AML. Flow cytometry revealed acute
myeloid leukemia at 1.3%.
Extended AML (NGS) mutation panel results: SUSPICIOUS (FLT3-ITD)
ANALYSIS/ CONCLUSION EXTENDED AML PANEL
ASXL1 Exon 13 (formerly Exon 12) (NM_015338.5)
CBL Exon 8+9 (NM_005188.3)
DNMT3A full (NM_022552.4)
FLT3 full (NM_004119.2)
IDH1 Exon 4 (NM_005896.2)
IDH2 Exon 4 (NM_002168.2)
KIT Exon 8 (NM_000222.2)
RUNX1 full (NM_001754.4)
TET2 Exon 3-11 (NM_001127208.2)
Analysis/Conclusions:

NEGATIVE
NEGATIVE
NEGATIVE
SUSPICIOUS: c.1825_1826insGCTATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAA;
NP_004110.2:p.Asn609_Leu609insSerTyrGluTyrAspLeuLysTrpGluPheProArgGlu;
variant allelic frequency: 2.5%
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
The specimen tested suspicious for the presence of an insertion mutation in Exon 14 of the FLT3 gene with a
variant allelic frequency of 2.5% below the detection level of this analysis. Activating mutations of the fms-like
tyrosine kinase 3 receptor have been described to be an important prognostic factor in AML and are associated
with worse prognosis [Thiede et al. Blood 2002, 99:4326-4335] [Kottaridis et al. Blood 2001, 98:1752-1759].
Clinical and histological correlation required for comprehensive interpretation
NGS Results on Flow Cytometric Sorted Cells
Specimen Type: Flow cytometry sorted CD34+ cell fraction of Bone Marrow Aspirate
Clinical History/Indications: A xy-year-old fe/male with a clinical history of AML. Flow cytometry revealed acute
myeloid leukemia at 1.3%. (See separate report).
Extended AML (NGS) mutation panel results: POSITIVE (FLT3-ITD)
ANALYSIS/ CONCLUSION EXTENDED AML PANEL
ASXL1 Exon 13 (formerly Exon 12) (NM_015338.5)
CBL Exon 8+9 (NM_005188.3)
DNMT3A full (NM_022552.4)
FLT3 full (NM_004119.2)
NEGATIVE
NEGATIVE
NEGATIVE
POSITIVE: c.1825_1826insGCTATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAA;
NP_004110.2:p.Asn609_Leu609insSerTyrGluTyrAspLeuLysTrpGluPheProArgGlu;
variant allelic frequency: 14.33%
IDH1 Exon 4 (NM_005896.2)
IDH2 Exon 4 (NM_002168.2)
KIT Exon 8 (NM_000222.2)
RUNX1 full (NM_001754.4)
TET2 Exon 3-11(NM_001127208.2)
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
Analysis/Conclusions:

The specimen tested positive for the presence of an insertion mutation in Exon 14 of the FLT3 gene in the CD34positive sorted myeloblast population of this specimen. Activating mutations of the fms-like tyrosine kinase 3
receptor have been described to be an important prognostic factor in AML and are associated with worse
prognosis [Thiede et al. Blood 2002, 99:4326-4335] [Kottaridis et al. Blood 2001, 98:1752-1759]. Clinical and
histological correlation required for comprehensive interpretation.
Related documents